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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1042832

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:205532341 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.339280 (89804/264690, TOPMED)
G=0.328027 (45931/140022, GnomAD)
G=0.34433 (9728/28252, 14KJPN) (+ 17 more)
G=0.33992 (6421/18890, ALFA)
G=0.34008 (5699/16758, 8.3KJPN)
G=0.3788 (2426/6404, 1000G_30x)
G=0.3884 (1945/5008, 1000G)
G=0.3337 (1495/4480, Estonian)
G=0.3358 (1294/3854, ALSPAC)
G=0.3339 (1238/3708, TWINSUK)
G=0.3900 (1142/2928, KOREAN)
G=0.4028 (738/1832, Korea1K)
G=0.385 (384/998, GoNL)
G=0.298 (179/600, NorthernSweden)
G=0.262 (140/534, MGP)
A=0.353 (122/346, SGDP_PRJ)
G=0.361 (78/216, Qatari)
G=0.425 (90/212, Vietnamese)
G=0.35 (14/40, GENOME_DK)
A=0.42 (11/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CDK18 : 3 Prime UTR Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 A=0.66008 G=0.33992
European Sub 14286 A=0.65351 G=0.34649
African Sub 2946 A=0.7301 G=0.2699
African Others Sub 114 A=0.754 G=0.246
African American Sub 2832 A=0.7292 G=0.2708
Asian Sub 112 A=0.661 G=0.339
East Asian Sub 86 A=0.64 G=0.36
Other Asian Sub 26 A=0.73 G=0.27
Latin American 1 Sub 146 A=0.630 G=0.370
Latin American 2 Sub 610 A=0.511 G=0.489
South Asian Sub 98 A=0.52 G=0.48
Other Sub 692 A=0.655 G=0.345


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.660720 G=0.339280
gnomAD - Genomes Global Study-wide 140022 A=0.671973 G=0.328027
gnomAD - Genomes European Sub 75820 A=0.65605 G=0.34395
gnomAD - Genomes African Sub 41960 A=0.73615 G=0.26385
gnomAD - Genomes American Sub 13646 A=0.58567 G=0.41433
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.6340 G=0.3660
gnomAD - Genomes East Asian Sub 3124 A=0.6178 G=0.3822
gnomAD - Genomes Other Sub 2152 A=0.6659 G=0.3341
14KJPN JAPANESE Study-wide 28252 A=0.65567 G=0.34433
Allele Frequency Aggregator Total Global 18890 A=0.66008 G=0.33992
Allele Frequency Aggregator European Sub 14286 A=0.65351 G=0.34649
Allele Frequency Aggregator African Sub 2946 A=0.7301 G=0.2699
Allele Frequency Aggregator Other Sub 692 A=0.655 G=0.345
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.511 G=0.489
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.630 G=0.370
Allele Frequency Aggregator Asian Sub 112 A=0.661 G=0.339
Allele Frequency Aggregator South Asian Sub 98 A=0.52 G=0.48
8.3KJPN JAPANESE Study-wide 16758 A=0.65992 G=0.34008
1000Genomes_30x Global Study-wide 6404 A=0.6212 G=0.3788
1000Genomes_30x African Sub 1786 A=0.7279 G=0.2721
1000Genomes_30x Europe Sub 1266 A=0.6840 G=0.3160
1000Genomes_30x South Asian Sub 1202 A=0.4517 G=0.5483
1000Genomes_30x East Asian Sub 1170 A=0.6137 G=0.3863
1000Genomes_30x American Sub 980 A=0.562 G=0.438
1000Genomes Global Study-wide 5008 A=0.6116 G=0.3884
1000Genomes African Sub 1322 A=0.7284 G=0.2716
1000Genomes East Asian Sub 1008 A=0.6101 G=0.3899
1000Genomes Europe Sub 1006 A=0.6680 G=0.3320
1000Genomes South Asian Sub 978 A=0.435 G=0.565
1000Genomes American Sub 694 A=0.559 G=0.441
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6663 G=0.3337
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6642 G=0.3358
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6661 G=0.3339
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.6100 C=0.0000, G=0.3900, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.5972 G=0.4028
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.615 G=0.385
Northern Sweden ACPOP Study-wide 600 A=0.702 G=0.298
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.738 G=0.262
SGDP_PRJ Global Study-wide 346 A=0.353 G=0.647
Qatari Global Study-wide 216 A=0.639 G=0.361
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.575 G=0.425
The Danish reference pan genome Danish Study-wide 40 A=0.65 G=0.35
Siberian Global Study-wide 26 A=0.42 G=0.58
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.205532341A>C
GRCh38.p14 chr 1 NC_000001.11:g.205532341A>G
GRCh38.p14 chr 1 NC_000001.11:g.205532341A>T
GRCh37.p13 chr 1 NC_000001.10:g.205501469A>C
GRCh37.p13 chr 1 NC_000001.10:g.205501469A>G
GRCh37.p13 chr 1 NC_000001.10:g.205501469A>T
Gene: CDK18, cyclin dependent kinase 18 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CDK18 transcript variant 2 NM_212502.3:c.*963= N/A 3 Prime UTR Variant
CDK18 transcript variant 1 NM_212503.3:c.*963= N/A 3 Prime UTR Variant
CDK18 transcript variant 3 NM_002596.4:c.*963= N/A 3 Prime UTR Variant
CDK18 transcript variant X2 XM_017001423.3:c.*963= N/A 3 Prime UTR Variant
CDK18 transcript variant X4 XM_011509602.4:c.*963= N/A 3 Prime UTR Variant
CDK18 transcript variant X1 XM_047422202.1:c. N/A Genic Downstream Transcript Variant
CDK18 transcript variant X3 XM_047422203.1:c. N/A Genic Downstream Transcript Variant
CDK18 transcript variant X5 XM_047422207.1:c. N/A Genic Downstream Transcript Variant
CDK18 transcript variant X6 XM_047422209.1:c. N/A Genic Downstream Transcript Variant
CDK18 transcript variant X7 XM_047422210.1:c. N/A Genic Downstream Transcript Variant
CDK18 transcript variant X8 XM_047422212.1:c. N/A Genic Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G T
GRCh38.p14 chr 1 NC_000001.11:g.205532341= NC_000001.11:g.205532341A>C NC_000001.11:g.205532341A>G NC_000001.11:g.205532341A>T
GRCh37.p13 chr 1 NC_000001.10:g.205501469= NC_000001.10:g.205501469A>C NC_000001.10:g.205501469A>G NC_000001.10:g.205501469A>T
CDK18 transcript variant 3 NM_002596.4:c.*963= NM_002596.4:c.*963A>C NM_002596.4:c.*963A>G NM_002596.4:c.*963A>T
CDK18 transcript variant 3 NM_002596.3:c.*963= NM_002596.3:c.*963A>C NM_002596.3:c.*963A>G NM_002596.3:c.*963A>T
CDK18 transcript variant X4 XM_011509602.4:c.*963= XM_011509602.4:c.*963A>C XM_011509602.4:c.*963A>G XM_011509602.4:c.*963A>T
CDK18 transcript variant X4 XM_011509602.3:c.*963= XM_011509602.3:c.*963A>C XM_011509602.3:c.*963A>G XM_011509602.3:c.*963A>T
CDK18 transcript variant X4 XM_011509602.2:c.*963= XM_011509602.2:c.*963A>C XM_011509602.2:c.*963A>G XM_011509602.2:c.*963A>T
CDK18 transcript variant X2 XM_011509602.1:c.*963= XM_011509602.1:c.*963A>C XM_011509602.1:c.*963A>G XM_011509602.1:c.*963A>T
CDK18 transcript variant 1 NM_212503.3:c.*963= NM_212503.3:c.*963A>C NM_212503.3:c.*963A>G NM_212503.3:c.*963A>T
CDK18 transcript variant 1 NM_212503.2:c.*963= NM_212503.2:c.*963A>C NM_212503.2:c.*963A>G NM_212503.2:c.*963A>T
CDK18 transcript variant X2 XM_017001423.3:c.*963= XM_017001423.3:c.*963A>C XM_017001423.3:c.*963A>G XM_017001423.3:c.*963A>T
CDK18 transcript variant X2 XM_017001423.2:c.*963= XM_017001423.2:c.*963A>C XM_017001423.2:c.*963A>G XM_017001423.2:c.*963A>T
CDK18 transcript variant X2 XM_017001423.1:c.*963= XM_017001423.1:c.*963A>C XM_017001423.1:c.*963A>G XM_017001423.1:c.*963A>T
CDK18 transcript variant 2 NM_212502.3:c.*963= NM_212502.3:c.*963A>C NM_212502.3:c.*963A>G NM_212502.3:c.*963A>T
CDK18 transcript variant 2 NM_212502.2:c.*963= NM_212502.2:c.*963A>C NM_212502.2:c.*963A>G NM_212502.2:c.*963A>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

75 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1510379 Oct 05, 2000 (86)
2 LEE ss4404223 May 29, 2002 (106)
3 YUSUKE ss4981925 Aug 28, 2002 (108)
4 CGAP-GAI ss16232691 Feb 27, 2004 (120)
5 SSAHASNP ss20585486 Apr 05, 2004 (123)
6 SEQUENOM ss24816527 Sep 20, 2004 (123)
7 ABI ss44035858 Mar 14, 2006 (126)
8 SI_EXO ss61711976 Oct 14, 2006 (127)
9 HGSV ss77114360 Dec 06, 2007 (129)
10 HGSV ss81040891 Dec 15, 2007 (130)
11 HUMANGENOME_JCVI ss99280884 Feb 06, 2009 (130)
12 BGI ss102815503 Dec 01, 2009 (131)
13 1000GENOMES ss111665584 Jan 25, 2009 (130)
14 ENSEMBL ss131737899 Dec 01, 2009 (131)
15 GMI ss156196198 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss164971623 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss167452613 Jul 04, 2010 (132)
18 BUSHMAN ss199518362 Jul 04, 2010 (132)
19 1000GENOMES ss218841597 Jul 14, 2010 (132)
20 1000GENOMES ss230871028 Jul 14, 2010 (132)
21 1000GENOMES ss238489642 Jul 15, 2010 (132)
22 BL ss253771945 May 09, 2011 (134)
23 GMI ss276187389 May 04, 2012 (137)
24 PJP ss290718625 May 09, 2011 (134)
25 TISHKOFF ss555078873 Apr 25, 2013 (138)
26 SSMP ss648647162 Apr 25, 2013 (138)
27 EVA-GONL ss976062186 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1068541473 Aug 21, 2014 (142)
29 1000GENOMES ss1294341883 Aug 21, 2014 (142)
30 DDI ss1426088668 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1574624763 Apr 01, 2015 (144)
32 EVA_DECODE ss1585457393 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1601973481 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1644967514 Apr 01, 2015 (144)
35 EVA_MGP ss1710940808 Apr 01, 2015 (144)
36 HAMMER_LAB ss1795620277 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1919288734 Feb 12, 2016 (147)
38 JJLAB ss2020165188 Sep 14, 2016 (149)
39 USC_VALOUEV ss2148194766 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2169458951 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2624591452 Nov 08, 2017 (151)
42 GRF ss2698185381 Nov 08, 2017 (151)
43 GNOMAD ss2765345662 Nov 08, 2017 (151)
44 SWEGEN ss2988323217 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3023842731 Nov 08, 2017 (151)
46 CSHL ss3343875908 Nov 08, 2017 (151)
47 OMUKHERJEE_ADBS ss3646252016 Oct 11, 2018 (152)
48 URBANLAB ss3646869865 Oct 11, 2018 (152)
49 EGCUT_WGS ss3656283555 Jul 12, 2019 (153)
50 EVA_DECODE ss3688477911 Jul 12, 2019 (153)
51 ACPOP ss3727794393 Jul 12, 2019 (153)
52 EVA ss3747239913 Jul 12, 2019 (153)
53 KHV_HUMAN_GENOMES ss3800246515 Jul 12, 2019 (153)
54 EVA ss3826604578 Apr 25, 2020 (154)
55 EVA ss3836702733 Apr 25, 2020 (154)
56 EVA ss3842113978 Apr 25, 2020 (154)
57 SGDP_PRJ ss3850738467 Apr 25, 2020 (154)
58 KRGDB ss3896035583 Apr 25, 2020 (154)
59 KOGIC ss3946339032 Apr 25, 2020 (154)
60 FSA-LAB ss3983960722 Apr 25, 2021 (155)
61 EVA ss3986015069 Apr 25, 2021 (155)
62 TOPMED ss4480855045 Apr 25, 2021 (155)
63 TOMMO_GENOMICS ss5148083309 Apr 25, 2021 (155)
64 1000G_HIGH_COVERAGE ss5245527179 Oct 12, 2022 (156)
65 EVA ss5324297798 Oct 12, 2022 (156)
66 HUGCELL_USP ss5445992522 Oct 12, 2022 (156)
67 EVA ss5506161511 Oct 12, 2022 (156)
68 1000G_HIGH_COVERAGE ss5519487604 Oct 12, 2022 (156)
69 SANFORD_IMAGENETICS ss5627295080 Oct 12, 2022 (156)
70 TOMMO_GENOMICS ss5675742594 Oct 12, 2022 (156)
71 YY_MCH ss5801570215 Oct 12, 2022 (156)
72 EVA ss5833154417 Oct 12, 2022 (156)
73 EVA ss5849251765 Oct 12, 2022 (156)
74 EVA ss5911663426 Oct 12, 2022 (156)
75 EVA ss5939126344 Oct 12, 2022 (156)
76 1000Genomes NC_000001.10 - 205501469 Oct 11, 2018 (152)
77 1000Genomes_30x NC_000001.11 - 205532341 Oct 12, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 205501469 Oct 11, 2018 (152)
79 Genetic variation in the Estonian population NC_000001.10 - 205501469 Oct 11, 2018 (152)
80 The Danish reference pan genome NC_000001.10 - 205501469 Apr 25, 2020 (154)
81 gnomAD - Genomes NC_000001.11 - 205532341 Apr 25, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000001.10 - 205501469 Apr 25, 2020 (154)
83 KOREAN population from KRGDB NC_000001.10 - 205501469 Apr 25, 2020 (154)
84 Korean Genome Project NC_000001.11 - 205532341 Apr 25, 2020 (154)
85 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 205501469 Apr 25, 2020 (154)
86 Northern Sweden NC_000001.10 - 205501469 Jul 12, 2019 (153)
87 Qatari NC_000001.10 - 205501469 Apr 25, 2020 (154)
88 SGDP_PRJ NC_000001.10 - 205501469 Apr 25, 2020 (154)
89 Siberian NC_000001.10 - 205501469 Apr 25, 2020 (154)
90 8.3KJPN NC_000001.10 - 205501469 Apr 25, 2021 (155)
91 14KJPN NC_000001.11 - 205532341 Oct 12, 2022 (156)
92 TopMed NC_000001.11 - 205532341 Apr 25, 2021 (155)
93 UK 10K study - Twins NC_000001.10 - 205501469 Oct 11, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000001.10 - 205501469 Jul 12, 2019 (153)
95 ALFA NC_000001.11 - 205532341 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3182271 Jul 03, 2002 (106)
rs3795548 Oct 08, 2002 (108)
rs12755276 Sep 24, 2004 (123)
rs16855792 Oct 07, 2004 (123)
rs60892811 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3212977, ss3896035583 NC_000001.10:205501468:A:C NC_000001.11:205532340:A:C (self)
ss77114360, ss81040891 NC_000001.8:202233125:A:G NC_000001.11:205532340:A:G (self)
ss111665584, ss164971623, ss167452613, ss199518362, ss253771945, ss276187389, ss290718625, ss1585457393 NC_000001.9:203768091:A:G NC_000001.11:205532340:A:G (self)
5185522, 2856235, 2021803, 1852894, 1247392, 3212977, 57560, 1079258, 1330664, 2755447, 711120, 6052616, 2856235, 617072, ss218841597, ss230871028, ss238489642, ss555078873, ss648647162, ss976062186, ss1068541473, ss1294341883, ss1426088668, ss1574624763, ss1601973481, ss1644967514, ss1710940808, ss1795620277, ss1919288734, ss2020165188, ss2148194766, ss2624591452, ss2698185381, ss2765345662, ss2988323217, ss3343875908, ss3646252016, ss3656283555, ss3727794393, ss3747239913, ss3826604578, ss3836702733, ss3850738467, ss3896035583, ss3983960722, ss3986015069, ss5148083309, ss5324297798, ss5506161511, ss5627295080, ss5833154417, ss5939126344 NC_000001.10:205501468:A:G NC_000001.11:205532340:A:G (self)
7013539, 37348965, 2717033, 9579698, 44461380, 10895452100, ss2169458951, ss3023842731, ss3646869865, ss3688477911, ss3800246515, ss3842113978, ss3946339032, ss4480855045, ss5245527179, ss5445992522, ss5519487604, ss5675742594, ss5801570215, ss5849251765, ss5911663426 NC_000001.11:205532340:A:G NC_000001.11:205532340:A:G (self)
ss61711976 NT_004487.17:55910407:A:G NC_000001.11:205532340:A:G (self)
ss1510379, ss4404223, ss4981925, ss16232691, ss24816527, ss44035858, ss99280884, ss102815503, ss131737899, ss156196198 NT_004487.19:56990110:A:G NC_000001.11:205532340:A:G (self)
ss20585486 NT_034410.5:1928149:A:G NC_000001.11:205532340:A:G (self)
3212977, ss3896035583 NC_000001.10:205501468:A:T NC_000001.11:205532340:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1042832

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07